hMLH1 promoter methylation and BRAF mutations in high-frequency microsatellite instability colorectal cancers not fulfilling the revised Bethesda guidelines

PURPOSE: Sporadic colorectal cancers with high-frequency microsatellite instability (MSI-H) are related to hypermethylation of mismatch repair (MMR) genes and a higher frequency of BRAF mutations than Lynch syndrome. We estimated the feasibility of hereditary colorectal cancer based on hMLH1 methylation and BRAF mutations. METHODS: Between May 2005 and June 2011, we enrolled all 33 analyzed patients with MSI-H cancer (male:female, 23:10; mean age, 65.5 +/- 9.4 years) from a prospectively maintained database that didn't match Bethesda guidelines and who had results of hMLH1 methylation and BRAF mutations. RESULTS: Among the 33 patients, hMLH1 promoter methylation was observed in 36.4% (n = 12), and was not significantly related with clinicopathologic variables, including MLH1 expression. BRAF mutations were observed in 33.3% of the patients (n = 11). Four of 11 and five of 22 patients with MSI-H colon cancers were BRAF mutation (+)/hMLH1 promoter methylation (-) or BRAF mutation (-)/hMLH1 promoter methylation (+). Of the 33 patients, 21.2% were BRAF mutation (+)/hMLH1 promoter methylation (+), indicating sporadic cancers. Seventeen patients (51.5%) were BRAF mutation (-)/hMLH1 promoter methylation (-), and suggested Lynch syndrome. CONCLUSION: Patients with MSI-H colorectal cancers not fulfilling the Bethesda guidelines possibly have hereditary colorectal cancers. Adding tests of hMLH1 promoter methylation and BRAF mutations can be useful to distinguish them from sporadic colorectal cancers.

Transanal Endoscopic Microsurgery for the Treatment of Well-Differentiated Rectal Neuroendocrine Tumors

PURPOSE: Recently, an increase in well-differentiated rectal neuroendocrine tumors (WRNETs) has been noted. We aimed to evaluate transanal endoscopic microsurgery (TEM) for the treatment of WRNETs. METHODS: Between December 1995 and August 2009, 109 patients with WRNETs underwent TEM. TEM was performed for patients with tumors sizes of up to 20 mm and without a lymphadenopathy. These patients had been referred from other clinics after having been diagnosed with WRNETs by using a colonoscopic biopsy; they had undergone a failed endoscopic submucosal dissection (ESD) or endoscopic mucosal resection (EMR) and exhibited an involved resection margin and remaining tumor after ESD or EMR, regardless of the distance from the anal verge. This study included 38 patients that had more than three years of follow-up. RESULTS: The mean age of the patients was 51.3 +/- 11.9 years, the mean tumor size was 8.0 +/- 3.9 mm, and no morbidity occurred. Thirty-five patients were asymptomatic. TEM was performed after a colonoscopic resection in 13 cases because of a positive resection margin, a residual tumor or a non-lifting lesion. Complete resections were performed in 37 patients; one patient with a positive margin was considered surgically complete. In one patient, liver metastasis and a recurrent mesorectal node occurred after five and 10 years, respectively. CONCLUSION: TEM might provide an accessible and effective treatment either as an initial or as an adjunct after a colonoscopic resection for a WRNET.

Treatment Outcomes of Anorectal Melanoma

PURPOSE: An anorectal melanoma (AM) is a very rare tumor. However, sufficient data supporting effective surgical options for the disease do not exist. This retrospective review aimed to analyze treatment outcomes for an AM. METHODS: From June 1999 to December 2008, we retrospectively reviewed a prospectively collected consecutive series of 19 patients who had undergone a surgical resection for an AM at a single institute. Surgical method and clinicopathological factors were analyzed. RESULTS: The median age was 61.4 years (range, 46 to79 years). Main symptoms were an anal mass, hematochezia, perianal pain, tenesmus, fecal incontinence, and bowel habit change. The average duration of symptoms before diagnosis was 7.8 months (range, 1 to 36 months). S-100 and HMB-45 were positive in all patients, even in non-melanin pigmentation. There were 12 abdominoperineal resections (APRs) and 7 wide local excisions (WEs). The APR showed longer overall survival when compared with the WE (64.1 months vs. 10.9 months, P < 0.001). No patients who underwent a WE survived more than 13 months. CONCLUSION: A high index of suspicion is necessary to establish the diagnosis for an AM in patients with anal symptoms, and S-100 and HMB-45 can be useful markers for an AM. Even with the small number of cases and the short follow-up, our data suggest that an APR for an AM may provide longer survival than a WE.

Oncologic Outcome after Cessation or Dose Reduction of Capecitabine in Patients with Colon Cancer

PURPOSE: Oral capecitabine has been used as adjuvant therapy for colorectal cancer patients since the 1990s. Patient-initiated cessation or reduced use of capecitabine occurs widely for various reasons, yet the consequences of these actions are unclear. The present study sought to clarify treatment outcomes in such patients. METHODS: The study included 173 patients who had been diagnosed with stage II or III colon cancer according to the pathologic report after radical surgery at Samsung Medical Center from May 2005 to June 2007 and who had received capecitabine as adjuvant therapy. The patients were divided into groups according to whether the dose was reduced (I, dose maintenance; II, dose reduction) or stopped (A, cycle completion; B, cycle cessation). Recurrence and disease-free survival rates between the two groups each were analyzed. RESULTS: Of the 173 patients, 128 (74.6%) experienced complications, most frequently hand-foot syndrome (n = 114). Reduction (n = 35) or cessation (n = 18) of medication was most commonly due to complications. Concerning reduced dosage, both groups displayed no statistically significant differences in recurrence rate and 3-year disease-free survival rate. Concerning discontinued medication use, the cycle completion group showed an improved recurrence rate (P = 0.048) and 3-year disease-free survival rate (P = 0.028). CONCLUSION: The results demonstrate that maintaining compliance with capecitabine as an adjuvant treatment for colon cancer to preventing complications positively affects patient prognosis.

Open Versus Laparoscopic Total Proctocolectomy with Ileal Pouch Anal Anastomosis for FAP / 대한내시경복강경외과학회지

PURPOSE: Restorative proctocolectomy with an ileal pouch anal anastomosis (IPAA) is the main surgical treatment for patients with familial adenomatous polyposis (FAP). With the advancements of minimal-invasive surgery, proctocolectomy with an ileal pouch anal anastomosis is increasingly being done by laparoscopic methods. This report aims to compare the presumed benefits of the laparoscopic approach with that of open surgery. METHODS: We reviewed 25 patients who underwent total proctocolectomy with IPAA between 1994 and 2009. The data of 9 patients who underwent laparoscopic surgery was analyzed and compared with the data of 16 patients who underwent the conventional open surgery. RESULTS: Laparoscopic proctocolectomy with an ileal pouch anal anastomosis (IPAA) was performed successfully without severe complications in 9 patients. The mean operation time of the laparoscopic group was 352 min, and this was significantly longer than that of the conventional group (252 min). The mean intra-operative blood loss, time to first flatulance, the hospital stay and the time to starting an oral diet were not significantly different from that of the open group. CONCLUSION: Laparoscopic IPAA is a feasible and safe procedure due to the reduced trauma and pain and a more favorable cosmetic result. As the technique and instrumentation for laparoscopic colon surgery are developed, this procedure will likely become an appealing option for the management of patients with FAP.

Elective Laparoscopic Repair after Colonoscopic Decompression for Incarcerated Morgagni Hernia

Plain radiographs of an 88-year-old woman who had experienced vomiting and abdominal distention for 3 days revealed a severely obstructed ileus, and abdominopelvic computed tomography revealed an incarcerated Morgagni hernia. The endoscope was passed through the constrictions from the diaphragmatic indentations and a thin catheter was placed for decompression. The obstructive ileus regressed markedly after the procedure; the patient underwent elective laparoscopic repair of the hernia 1 week later. This is believed to be the first case of endoscopic preoperative decompression for an incarcerated Morgagni hernia.

Chemoport Insertion using Cephalic Vein

Various venous approaches are available for chemoport insertion. The subclavian vein and jugular vein are commonly used. The cephalic vein has several advantages for chemoport insertion. The authors introduce chemoport insertion using cephalic vein. Operation methods were as follows: patient was placed in supine position. Under local anesthesia, the incision was made in the infraclavicular portion, dissection was performed along the deltopectoral groove and the cephalic vein was identified and isolated. Dissection was performed between the subcutaneous fat layer and the muscle layer to make space for chemoport placement. The cephalic vein was incised and the catheter was introduced to the cephalic vein directly and examined by fluoroscopy. Chemoport insertion using cephalic vein is a useful method of chemoport insertion.

The Role of Laparoscopy for Intussusceptions

PURPOSE: In general, laparoscopic surgery has many advantages such as the improved cosmesis and the reduced pain, postoperative recovery and hospital stay. We evaluated the minimal invasive technique for the treatment of radiologically irreducible intussusceptions. METHODS: From January 1997 to April of 2007, the medical records of patients who underwent operation due to radiologically irreducible intussusceptions were reviewed. Age, gender, body weight, clinical symptoms, duration of symptoms, operation time, time to pass flatus, day of starting an oral diet, length of the hospital stay and complications were compared between the conventional surgery group and the laparoscopic group. RESULTS: 86 cases were enrolled in this study. 9 patients (10.5%) underwent laparoscopic surgery and 86 patients (89.5%) underwent conventional surgery. There were no differences between the two groups in terms of age, gender, body weight, duration of symptoms, clinical symptoms, operative time and the surgical morbidity. Postoperative flatus passing, starting the postoperative diet and the length of the hospital stay were significantly reduced in the laparoscopic group. CONCLUSION: The laparoscopic approach is one of the effective treatments for radiologically irreducible intussusceptions.

Hereditary Pancreatitis: Report of a Kindred

Hereditary pancreatitis (HP) appears as an autosomal dominant trait. If the patient has (1) more than 2 affected relatives in different generations and (2) no known etiological factors such as alcohol or gallstones, or has R122H or N29I mutation in the cationic trypsinogen (CT) gene, the diagnosis of HP can be applied. Risk of pancreatic cancer is estimated to be 53-fold higher than in a general population after the age of 50 years. We report a kindredof HP, involving three of its family together; two siblings (14 years old, 13 years old) and cousin (26 years old). The patient had complicating chronic pancreatitis and pancreatic stone, and was treated with amodified Puestow-Gillesby procedure. Her sisters showed chronic pancreatitis. Her cousin underwent a drainage procedure of the pancreatic duct for chronic pancreatitis during the high school period. All the three members showed the R122H mutation of the CT gene.

Hereditary Pancreatitis: Report of a Kindred

Hereditary pancreatitis (HP) appears as an autosomal dominant trait. If the patient has (1) more than 2 affected relatives in different generations and (2) no known etiological factors such as alcohol or gallstones, or has R122H or N29I mutation in the cationic trypsinogen (CT) gene, the diagnosis of HP can be applied. Risk of pancreatic cancer is estimated to be 53-fold higher than in a general population after the age of 50 years. We report a kindredof HP, involving three of its family together; two siblings (14 years old, 13 years old) and cousin (26 years old). The patient had complicating chronic pancreatitis and pancreatic stone, and was treated with amodified Puestow-Gillesby procedure. Her sisters showed chronic pancreatitis. Her cousin underwent a drainage procedure of the pancreatic duct for chronic pancreatitis during the high school period. All the three members showed the R122H mutation of the CT gene.

Laparoscopic Splenic Flexure Mobilization Using a Medial Approach

PURPOSE: Splenic flexure mobilization in an anterior resection is a subject of controversy, but a tension-free anastomosis is needed in case of a low anterior resection or a coloanal anastomosis. Classical splenic flexure mobilization by means of the lesser sac opening is technically difficult in the laparoscopic era. METHODS: This study retrospectively analyzed the medical records and operation videos of 16 patients who underwent laparoscopic splenic flexure mobilization in Our Lady of Mercy Hospital, The Catholic University of Korea by using a medial approach. The operation procedure is as follows: Under general anesthesia, the patient was placed in the Trendelenburg position, after making pneumoperitoneum, the inferior mesenteric artery (IMA) and the inferior mesenteric vein (IMV) were ligated and divided. A medial-to-lateral mesocolon dissection was done, and the pancreas was dissected from the mesocolon of the transverse colon; then, the greater omentum was dissected. RESULTS: The mean age was 60 years old, and the male- to-female sex ratio was 9:7. The mean operation time was 293 minutes. The mean distal margin was 5.3 cm, and the mean number of harvested lymph nodes was 15. An anterior resection was done in 2 cases, a low anterior resection is 10 cases, and a coloanal anastomosis in 4 cases. The mean time from ligation of the IMA to splenic flexure mobilization was 45 minutes. There was no mortality or morbidity. CONCLUSIONS: Laparoscopic medial splenic flexure mobilization is a technically feasible and safe method.

Primary Signet-ring-cell Carcinoma of the Right and the Sigmoid Colon in Crohn's Disease

A 31-year-old woman with a 5-year history of Crohn's disease was admitted to our hospital because of recurrent right lower quadrant pain and diarrhea. Abdominal computed tomography showed multiple fistulas between the terminal ileum, the sigmoid colon, and the cecum, and mucosal wall thickenings due to an active inflammatory process and mucosal enhancements. Colonoscopic examinations showed a finger-like projection of a polypoid mass at the ileocecal valve, long-neck, finger-like pseudopolyps at the cecum, and soft, lumen narrowing and multiple pseudopolyps at the sigmoid colon and the intact rectum. There was healing scarring of the anal fistula. These findings were compatible with those of Crohn's disease. Histologic findings were chronic inflammation with erosion and regenerative crypt epithelium. The patient underwent infliximab therapy. She underwent a right colectomy, a Hartman's procedure, and a small bowel segmental resection due to multiple fistulas. The pathologic diagnosis was a signet-ring-cell carcinoma with non-caseating granuloma in the ascending colon, ileum, and sigmoid colon. We report this case of Crohn's disease associated with a colonic signet-ring cell carcinoma.